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1دورية أكاديمية
المؤلفون: Chih-Ping Chen, Jian-Pei Huang, Kun-Shuo Huang, Yi-Yung Chen, Fang-Tzu Wu, Yen-Ting Pan, Chien-Ling Chiu, Wayseen Wang
المصدر: Taiwanese Journal of Obstetrics & Gynecology, Vol 63, Iss 3, Pp 387-390 (2024)
مصطلحات موضوعية: c.1019A>G, FGFR2, Pfeiffer syndrome, Thanatophoric dysplasia type II, Y340C, Gynecology and obstetrics, RG1-991
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S1028455924000809Test; https://doaj.org/toc/1028-4559Test
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2دورية أكاديمية
المؤلفون: Monika Gorska-Arcisz, Marta Popeda, Marcin Braun, Dominika Piasecka, Joanna I. Nowak, Kamila Kitowska, Grzegorz Stasilojc, Marcin Okroj, Hanna M. Romanska, Rafal Sadej
المصدر: Cellular & Molecular Biology Letters, Vol 29, Iss 1, Pp 1-22 (2024)
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1689-1392Test
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3دورية أكاديمية
المؤلفون: Nanfang Xu, Kan-Lin Hung, Xiaoli Gong, Dongwei Fan, Yinglun Tian, Ming Yan, Yuan Wei, Shenglin Wang
المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-15 (2024)
مصطلحات موضوعية: Klippel–Feil syndrome, Atlantoaxial dislocation, Whole-exome sequencing, FGFR2, Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1750-1172Test
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4دورية أكاديمية
المؤلفون: Songwei Feng, Bo Ding, Zhu Dai, Han Yin, Yue Ding, Sicong Liu, Ke Zhang, Hao Lin, Zhongdang Xiao, Yang Shen
المصدر: Journal of Translational Medicine, Vol 22, Iss 1, Pp 1-25 (2024)
مصطلحات موضوعية: Ovarian cancer, FGF7, Epithelial-mesenchymal transition, CAFs, FGFR2, Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1479-5876Test
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5رسالة جامعية
المؤلفون: Velasco Sánchez, Ana
المساهمون: University/Department: Universitat de Lleida. Departament de Ciències Mèdiques Bàsiques
مرشدي الرسالة: Matias-Guiu, Xavier, Dolcet Roca, Xavier
المصدر: TDX (Tesis Doctorals en Xarxa)
مصطلحات موضوعية: Càncer d'endometri, PIK3CA, FGFR2, Oncògens, Cáncer de endometrio, Oncogenes, Endometrial Cancer
وصف الملف: application/pdf
الوصول الحر: http://hdl.handle.net/10803/110545Test
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6دورية أكاديمية
المصدر: BMC Medical Genomics, Vol 16, Iss 1, Pp 1-8 (2023)
مصطلحات موضوعية: Osteoporosis, Osteogenesis Imperfecta, BMD, Fracture, FGFR2, Internal medicine, RC31-1245, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1755-8794Test
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7دورية أكاديمية
المؤلفون: Xiaohong Pu, Liang Qi, Jia Wu Yan, Zihe Ai, Ping Wu, Fei Yang, Yao Fu, Xing Li, Min Zhang, Beicheng Sun, Shen Yue, Jun Chen
المصدر: Cell & Bioscience, Vol 13, Iss 1, Pp 1-16 (2023)
مصطلحات موضوعية: Intrahepatic cholangiocarcinoma, FGFR2, Translocation, In-frame deletion, Biotechnology, TP248.13-248.65, Biology (General), QH301-705.5, Biochemistry, QD415-436
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2045-3701Test
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8دورية أكاديمية
المؤلفون: Zhenkun Weng, Cheng Xu, Xiu Chen, Qing Yan, Zuqiang Fu, Jian Jiao, Jin Xu, Qian Liu, Dongmei Wang, Jingjia Liang, Wenxiang Li, Aihua Gu
المصدر: Environment International, Vol 184, Iss , Pp 108477- (2024)
مصطلحات موضوعية: Nickel, Craniosynostosis, FGFR2, ERK1/2 signaling, DNA methylation, Environmental sciences, GE1-350
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S0160412024000631Test; https://doaj.org/toc/0160-4120Test
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9دورية أكاديمية
المؤلفون: M. A. Sokolova, E. A. Sarkisyan, P. V. Shumilov, L. D. Vorona, L. A. Levchenko, Yu. L. Ishutina, E. I. Shabelnikova, A. I. Krapivkin, М. А. Соколова, Е. А. Саркисян, П. В. Шумилов, Л. Д. Ворона, Л. А. Левченко, Ю. Л. Ишутина, Е. И. Шабельникова, А. И. Крапивкин
المصدر: Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics); Том 69, № 1 (2024); 78-85 ; Российский вестник перинатологии и педиатрии; Том 69, № 1 (2024); 78-85 ; 2500-2228 ; 1027-4065
مصطلحات موضوعية: ген FGFR3, Crouzon syndrome, craniosynostosis, exophthalmos, hypertelorism, maxillary micrognathia, FGFR2 gene, FGFR3 gene, синдром Крузона, краниосиностоз, экзофтальм, гипертелоризм, микрогнатия верхней челюсти, ген FGFR2
وصف الملف: application/pdf
العلاقة: https://www.ped-perinatology.ru/jour/article/view/1942/1462Test; Sawh-Martinez R., Steinbacher D.M. Syndromic Craniosynostosis. Clin Plast Surg 2019; 46(2): 141–155. DOI:10.1016/j.cps.2018.11.009; Conrady C.D., Patel B.C. Crouzon Syndrome. StatPearls Publishing; 2023 Aug; PMID: 30085540. https://www.ncbi.nlm.nih.gov/books/NBK518998Test / Ссылка активна на 12. 12. 2023.; Кулаков А.А. Челюстно-лицевая хирургия. Под ред. А.А. Кулакова. Москва: ГЭОТАР-Медиа, 2019; 692 с.; Cunningham M.L., Seto M.L., Ratisoontorn C., Heike C.L., Hing A.V. Syndromic craniosynostosis: from history to hydrogen bonds. Orthod Craniofac Res 2007; 10(2): 67–81. DOI:10.1111/j.1601–6343.2007.00389.x; Pal U.S., Gupta C., Chellappa A.A. Crouzon syndrome with primary optic nerve atrophy and normal brain functions : A case report. J Oral Biol Craniofac Res 2012; 2(2): 116–118. DOI:10.1016/j.jobcr.2012.03.011; Reardon W., Winter R.M., Rutland P., Pulleyn L.J., Jones B.M., Malcolm S. Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome. Nat Genet 1994; 8(1): 98–103.; Di Rocco F., Collet C., Legeai-Mallet L., Arnaud E., Le Merrer M., Hadj-Rabia S., Renier D. Crouzon syndrome with acanthosis nigricans: a case-based update. Childs Nerv Syst 2011; 27(3): 349–354. DOI:10.1007/s00381–010–1347-z; Mathijssen I.M. Guideline for Care of Patients With the Diagnoses of Craniosynostosis: Working Group on Craniosynostosis. J Craniofac Surg 2015; 26(6): 1735–1807. URL: https://www.researchgate.net/publication/281682735_Guideline_for_Care_of_Patients_With_the_Diagnoses_of_Craniosynostosis_Working_Group_on_CraniosynostosisTest; Kim H.J., Roh H.G., Lee I.W. Craniosynostosis: Updates in Radiologic Diagnosis. J Korean Neurosurg Soc 2016; 59(3): 219–226. DOI:10.3340/jkns.2016.59.3.219; Ciurea AV, Toader C. Genetics of craniosynostosis : review of the literature. J Med Life 2009; 2(1): 5–17.; Vargervik K., Rubin M.S., Grayson B.H., Figueroa A.A., Kreiborg S., Shirley J.C. et al. Parameters of care for craniosynostosis: dental and orthodontic perspectives. Am J Orthod Dentofacial Orthop 2012; 141(4 Suppl): S68–73. DOI:10.1016/j.ajodo.2011.12.013; Raybaud C., Di Rocco C. Brain malformation in syndromic craniosynostoses, a primary disorder of white matter : a review. Childs Nerv Syst 2007; 23(12): 1379–1388. DOI:10.1007/s00381–007–0474–7; Conrady C.D., Patel B.C., Sharma S. Apert Syndrome. Stat-Pearls Publishing; 2023 Jan; PMID: 30085535. https://pubmed.ncbi.nlm.nih.gov/30085535Test / Ссылка активна на 12. 12. 2023.; Wilkie A.O., Slaney S.F., Oldridge M., Poole M.D., Ashworth G.J., Hockley A.D. et al. Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. Nat Genet 1995; 9(2): 165–172.; Fearon J.A. Treatment of the hands and feet in Apert syndrome: an evolution in management. Plast Reconstr Surg 2003; 112(1): 1–12. URL: https://www.researchgate.net/publication/10685177_Treatment_of_the_Hands_and_Feet_in_Apert_Syndrome_An_Evolution_in_ManagementTest; Betances E.M., Mendez M.D., Das J. Craniosynostosis. Stat-Pearls Publishing 2023; PMID: 31335086. https://pubmed.ncbi.nlm.nih.gov/31335086Test / Ссылка активна на 12.12.2023.; Kalathia M.B., Parikh Y.N., Dhami M.D., Hapani P.T. Pfeiffer syndrome. J Pediatr Neurosci 2014; 9(1): 85–86. URL: https://www.researchgate.net/publication/262816749_Pfeiffer_syndromeTest; Клинические рекомендации ассоциации генетиков и неврологов 2017 «Диагностика и лечение синдрома Пфайффера». https://med-gen.ru/docs/pfayfer.pdfTest / Ссылка активна на 12. 12. 2023.; Taylor J.A., Bartlett S.P. What’s New in Syndromic Craniosynostosis Surgery? Plast Reconstr Surg 2017; 140(1): 82e–93e. URL: https://www.researchgate.net/publication/318163206_WhatTest's_New_in_Syndromic_Craniosynostosis_Surgery; Azoury S.C., Reddy S., Shukla V., Deng C.X. Fibroblast Growth Factor Receptor 2 (FGFR2) Mutation Related Syndromic Craniosynostosis. Int J Biol Sci 2017; 13(12): 1479–1488. DOI:10.7150/ijbs.22373; Graul-Neumann L.M., Klopocki E., Adolphs N., Mensah M.A., Kress W. Mutation c.943G>T (p.Ala315Ser) in FGFR2 Causing a Mild Phenotype of Crouzon Craniofacial Dysostosis in a Three-Generation Family. Mol Syndromol 2017; 8(2): 93–97. DOI:10.1159/000455028; Kutkowska-Kaźmierczak A., Gos M., Obersztyn E. Craniosynostosis as a clinical and diagnostic problem: molecular pathology and genetic counseling. J Appl Genet 2018; 59(2) :133–147. DOI:10.1007/s13353–017–0423–4; Snyder-Warwick A.K., Perlyn C.A., Pan J., Yu K., Zhang L., Ornitz D.M. Analysis of a gain-of-function FGFR2 Crouzon mutation provides evidence of loss of function activity in the etiology of cleft palate. Proc Natl Acad Sci USA 2010; 107(6): 2515–20. DOI:10.1073/pnas.0913985107; Carter E.P., Fearon A.E., Grose R.P. Careless talk costs lives: fibroblast growth factor receptor signalling and the consequences of pathway malfunction. Trends Cell Biol 2015; 25(4): 221–233. DOI:10.1016/j.tcb.2014.11.003; Kapp-Simon K.A., Speltz M.L., Cunningham M.L., Patel P.K., Tomita T. Neurodevelopment of children with single suture craniosynostosis: a review. Childs Nerv Syst 2007; 23(3): 269–281. DOI:10.1007/s00381–006–0251-z; https://www.ped-perinatology.ru/jour/article/view/1942Test
الإتاحة: https://doi.org/10.21508/1027-4065-2024-69-1-78-85Test
https://doi.org/10.1016/j.cps.2018.11.009Test
https://doi.org/10.1111/j.1601Test–6343.2007.00389.x
https://doi.org/10.1016/j.jobcr.2012.03.011Test
https://doi.org/10.1007/s00381Test–010–1347-z
https://doi.org/10.3340/jkns.2016.59.3.219Test
https://doi.org/10.1016/j.ajodo.2011.12.013Test
https://doi.org/10.1007/s00381Test–007–0474–7
https://doi.org/10.7150/ijbs.22373Test
https://doi.org/10.1159/000455028Test -
10دورية أكاديمية
المؤلفون: Jonathan Wadsley, Alan Christie, Roopinder Gillmore, Amy Trinh, Rachel Greig
المصدر: Drugs in Context, Vol 12, Pp 1-9 (2023)
مصطلحات موضوعية: cholangiocarcinoma, fgfr2 fusion, metastatic disease, pemigatinib, Therapeutics. Pharmacology, RM1-950
وصف الملف: electronic resource
العلاقة: https://www.drugsincontext.com/clinical-experience-with-pemigatinib-for-previously-treated-metastatic-cholangiocarcinoma-practical-considerations-from-clinical-casesTest/; https://doaj.org/toc/1740-4398Test